DISEASES

Disease-gene associations mined from literature

Literature associating BANP and brittle cornea syndrome 1

BANP [ENSP00000376902]

Protein BANP; Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function. Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels. Promotes TP53 'Ser-15' phosphorylation and nuclear accumulation, which causes cell cycle arrest (By similarity); Belongs to the BANP/SMAR1 family.

Synonyms:  BANP,  A0A0S2Z5C2,  A0A0S2Z5M2,  C9J811,  C9JF73 ...

Linkouts:  STRING  Pharos  UniProt